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Health Burden of Hypophosphatasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02751801
Recruitment Status : Completed
First Posted : April 26, 2016
Last Update Posted : February 15, 2019
Information provided by (Responsible Party):
Sheffield Teaching Hospitals NHS Foundation Trust

Brief Summary:

Hypophosphatasia (HPP) is a genetic disorder caused by mutation in the tissue-non-specific alkaline phosphatase gene (TNSALP). It causes impaired bone mineralisation, fractures, tooth loss, muscle weakness and possibly other adverse health outcomes.

The infantile-onset forms are severe, and were often fatal until the recent availability of a treatment (Asfotase Alfa). The childhood-onset forms are less severe, and the adult-onset form is mild, and often unrecognised or misdiagnosed as osteoporosis.

The less severe forms of the disease are not well described, and because there has been no available treatment there has not been much research in adults. However, now that treatment is available there is a possibility of a clinical trial in adults. To know whether there is a need for a trial there is a need to determine if there is a significant personal and economic burden associated with the less severe forms of HPP.

The study consists of a clinical interview and notes review of adults and children with confirmed (by biochemical and genetic testing) HPP attending metabolic bone clinics in Sheffield to establish their clinical problems and healthcare use. There are currently about 26 adults and 8 children attending clinics in Sheffield.

The information will be used to plan a data search and health economic analysis of the burden of HPP from the UK Clinical Practice Research Database in collaboration with Pharmatelligence (a healthcare data group based within the University of Cardiff).

Condition or disease Intervention/treatment
Hypophosphatasia Other: no intervention

Detailed Description:

This is an observational retrospective study to describe the clinical problems and healthcare use of adults and children with hypophosphatasia.

Interviews will be conducted with patients with childhood- and adult-onset hypophosphatasia (and the parents of the children). Hospital notes, appointment records and GP summary care records will also be reviewed.

These sources will be used to describe their clinical problems, how these problems affect their daily function, and which healthcare services they have used.

Patients will attend for a single visit to obtain informed consent and conduct the interview.

Health problems specifically assessed in detail will include:

  • Fractures
  • Dental problems
  • Skeletal complications
  • Mobility problems
  • Neurosurgical complications
  • Seizures
  • Respiratory complications
  • Depression and anxiety
  • Side effects of treatment including hypercalcaemia and hyperphosphataemia Deaths will also be recorded

Health care resource assessment will include

  • Primary care episodes
  • Secondary and tertiary care outpatient episodes
  • In-patient episodes
  • Nutritional support
  • Therapy support
  • Dental treatment
  • Over the counter medication use

A case data report form will be developed as an iterative process through the period of the interviews to ensure that all data of potential interest is captured. Because the condition is not well described it is important that the data reported is not limited to the areas where it might be already expected to find problems.

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Study Type : Observational
Actual Enrollment : 28 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Health Burden of Hypophosphatasia
Study Start Date : November 2016
Actual Primary Completion Date : December 2017
Actual Study Completion Date : December 2017

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
Adults and children with hypophosphatasia
Healthcare use interview
Other: no intervention

Primary Outcome Measures :
  1. description of healthcare use [ Time Frame: one day study visit ]
    Descriptive data on which health care services the patient has used in relation to HPP

Secondary Outcome Measures :
  1. healthcare use appointments [ Time Frame: one day study visit ]
    descriptive data on number of healthcare encounters

  2. healthcare cost [ Time Frame: one day study visit ]
    estimated healthcare cost attributable to HPP

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adults and children with hypophosphatasia

Inclusion Criteria:

  • Hypophosphatasia

Exclusion Criteria:

  • Unable/unwilling to give informed consent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02751801

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United Kingdom
Academic Unit of Bone Metabolism (Sheffield)
Sheffield, South Yorks, United Kingdom, S5 7AU
Sponsors and Collaborators
Sheffield Teaching Hospitals NHS Foundation Trust
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Principal Investigator: Richard Eastell, MD FRCP University of Sheffield

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Responsible Party: Sheffield Teaching Hospitals NHS Foundation Trust Identifier: NCT02751801     History of Changes
Other Study ID Numbers: STH19182
First Posted: April 26, 2016    Key Record Dates
Last Update Posted: February 15, 2019
Last Verified: February 2019
Additional relevant MeSH terms:
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Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases